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Deep amplicon resequencing identified parental mosaicism for approximately 10% "de novo" SCN1A mutations in Dravet Syndrome families and was capable of multiple validations of mosaicism, at

演讲地点: 

American Society of Human Genetics 67th Annual Meeting on 18, Orlando, Florida
, 星期三, 十月 18, 2017:
PDF icon 20171018_yangxx_slides_v7.pdf

Background: The accurate identification of the origin and transmission of mutations causing severe Mendelian disorders such as Dravet syndrome (DS, mainly caused by de novo SCN1A mutations) is critical in genetic counseling. In current practice, a mutation is considered “de novo” if Sanger sequencing detects the mutant allele in peripheral blood DNA of the patient but not in their parents.

Approximately 10% of “de novo” SCN1Amutations causing Dravet syndrome are inherited from undetected parental mosaicism, at

演讲地点: 

31st International Epilepsy Congress, Istanbul, Turkey
, 星期一, 九月 7, 2015:
PDF icon scn1a_mosaicism_final_20150907_yangxx.pdf

The majority of children with Dravet syndrome (DS) are caused by de novo SCN1A mutations. To investigate the origin of the mutations, we developed and applied a new method that combined deep amplicon resequencing with a Bayesian model to detect and quantify allelic fractions with improved sensitivity. Of 174 SCN1A mutations in DS probands which were considered “de novo” by Sanger sequencing, we identified 15 cases (8.6%) of parental mosaicism. We identified another five cases of parental mosaicism that were also detectable by Sanger sequencing.